Aicardi syndrome: A case report.
- Author:
Camille S. Cantalejo
;
Lucy Kathrina F. Banta-Banzali
- Publication Type:Case Reports
- From:
The Philippine Children’s Medical Center Journal
2021;17(2):43-50
- CountryPhilippines
- Language:English
-
Abstract:
Aicardi Syndrome is an extremely rare genetic disorder characterized by infantile
seizures/spasms, agenesis of the corpus callosum, chorioretinal lacunae, and learning disabilities.
It is likely caused by a de novo mutation in a gene in the X chromosome. However, the gene that
causes this syndrome is still not known. It is diagnosed based on clinical findings. Aicardi
syndrome may present as a clinical spectrum, from mild to severe disease. In general, the
younger the age at which epilepsy and learning disabilities are diagnosed, the more severe the
epilepsy and learning difficulties become later in life. Hence, long-term surveillance and
management are warranted. This paper presents a 6-month-old Filipino female who exhibited
the classic triad of Aicardi Syndrome: profound seizure episodes; callosal agenesis and
interhemispheric cysts; and chorioretinal lacunae. Several anti-epileptic drugs such as
Phenobarbital, Clonazepam and Topiramate were given for the seizures. Ophthalmogic
examination and retinal camera fluorescein angiogram were advised to be performed regularly as
well as consistent neurodevelopmental follow-up.
- Full text:Aicardi syndrome A case report.pdf
